rs689470

This functional study examined how PTGS2 gene variants in the promoter region and 3'-UTR modulate COX-2 gene expression using luciferase reporter assays in MCF-7 and HEK293FT cells. The rs689466 G variant showed consistent enhancing effects (~2-fold increase in transcriptional activity, P<0.001), while rs20417 C reduced activity by 40% in MCF-7 cells. The 3'-UTR rs5275 variant had variable effects depending on cell line, but the transcriptional effect of rs689466 remained detectable.

This review examines COX-2 (PTGS2) genetic variants and their association with gastric cancer susceptibility. Key variants include rs689466 (OR=1.19, p=0.002), rs20417 (OR=1.26, p<0.001), rs3218625 (OR=1.62, p=0.039), and rs5275 (OR=1.14, p=0.030), which increase gastric cancer risk through enhanced transcriptional activity or mRNA stability. The paper synthesizes data from multiple case-control studies and the authors' own analyses in Chinese populations (296-660 cases each), establishing COX-2 polymorphisms as potential biomarkers for cancer risk stratification.

A case-control study of 147 oral premalignant lesion (OPL) patients and 147 healthy controls found that the COX-2 exon10+837T>C variant (rs5275) was associated with significantly reduced OPL risk (OR=0.48, 95% CI 0.28-0.80, p=0.005). Common haplotype WMW (containing the rs5275 variant) and diplotype WWW/WMW both showed reduced OPL risk (ORs 0.55 and 0.44, respectively), with protective effects observed in males, younger subjects, ever smokers, and ever drinkers.